Melanie Decker

Acute myeloid leukemia associated RUNX1 variants induce aberrant expression of transcription factor TCF4

Mylène Gerritsen, Florentien E. M. in ’t Hout, Ruth Knops, Bas L R Mandos et autres

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Managing hyperglycemia and rash associated with alpelisib: expert consensus recommendations using the Delphi technique

Emily J. Gallagher, Heather Moore, Mario E. Lacouture, Susan Faye Dent et autres

Hyperglycemia and rash are expected but challenging adverse events of phosphatidylinositol-3-kinase inhibition (such as with alpelisib). Two modified Delphi panels were conducted to provide consensus recommendations for managing hyperglycemia and rash in patients taking alpelisib. Experts rated the appropriateness of interventions on …

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FUNCTIONAL ANALYSES OF RUNX1 VARIANTS IN THE CONTEXT OF FAMILIAL PLATELET DISORDER WIT PREDISPOSITION TO HEMATOLOGIC MALIGNANCIES

Melanie Decker, Förster Alisa, Prüne Alina, Anne Seebacher et autres

Background and aims: Pathogenic germline variants in RUNX1 cause familial platelet disorder with predisposition to hematologic malignancies (RUNX1- FPD). Since RUNX1 variants are often reported in individual families and no functional data is available at the time of identification, its missense variants …

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SPECTRUM OF CLINICAL PHENOTYPES AND SOMATIC VARIANTS IN RUNX1-ASSOCIATED FAMILIAL PLATELET DISORDER WITH PREDISPOSITION TO HEMATOLOGIC MALIGNANCIES

Alisa Förster, Melanie Decker, Yvonne Lisa Behrens, Gudrun Göhring et autres

Background and aims: Pathogenic germline variants in RUNX1 cause familial platelet disorder with predisposition to hematologic malignancies (RUNX1- FPD), characterized by incomplete penetrance and a broad phenotypic spectrum even among affected family members. Causal germline variants are presumed to promote an inflammatory …

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Correction to: Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies

Melanie Decker, Tim Lammens, Alina Ferster, Miriam Erlacher et autres

In the original article, all Lys167Arg-mislabelled variants were changed to Lys167Asn. Furthermore, the Supplementary Information was revised.

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Expert consensus recommendations for managing hyperglycemia and rash in patients with PIK3CA-mutated, hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2–) advanced breast cancer (ABC) treated with alpelisib (ALP).

Emily J. Gallagher, Heather Moore, Mario E. Lacouture, Susan Faye Dent et autres

422 Background: ALP is a PI3Kα inhibitor and degrader approved with fulvestrant for the treatment (tx) of patients (pts) with PIK3CA-mutated, HR+, HER2– ABC. Hyperglycemia (HG) and rash are expected adverse events with ALP tx and remain a challenge for physicians and …

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Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies

Alisa Förster, Melanie Decker, Brigitte Schlegelberger, Tim Ripperger

Pathogenic loss-of-function RUNX1 germline variants cause autosomal dominantly-inherited familial platelet disorder with predisposition to hematologic malignancies (RUNX1-FPD). RUNX1-FPD is characterized by incomplete penetrance and a broad spectrum of clinical phenotypes, even within affected families. Heterozygous RUNX1 germline variants set the basis for …

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MiR-129-5p exerts Wnt signaling-dependent tumor-suppressive functions in hepatocellular carcinoma by directly targeting hepatoma-derived growth factor HDGF

Nicole Huge, Thea Reinkens, Reena Buurman, Maria Sandbothe et autres

BACKGROUND: In hepatocellular carcinoma (HCC), histone deacetylases (HDACs) are frequently overexpressed. This results in chromatin compaction and silencing of tumor-relevant genes and microRNAs. Modulation of microRNA expression is a potential treatment option for HCC. Therefore, we aimed to characterize the epigenetically regulated …

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Validation and clinical application of transactivation assays forRUNX1variant classification

Melanie Decker, Anupriya Agarwal, Andreas Benneche, Jane E. Churpek et autres

Familial platelet disorder with associated myeloid malignancies (RUNX1-familial platelet disorder [RUNX1-FPD]) is caused by heterozygous pathogenic germline variants of RUNX1. In the present study, we evaluate the applicability of transactivation assays to investigate RUNX1 variants in different regions of the protein. We …

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Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies

Melanie Decker, Tim Lammens, Alina Ferster, Miriam Erlacher et autres

Heterozygous, pathogenic germline variants of RUNX1 [ 1 ] are causative for familial platelet disorder with associated myeloid malignancies (RUNX1-FPD, FPDMM, FPD/AML; OMIM 601399; ORPHA 71290) [ 2 ]. RUNX1-FPD is characterized by incomplete penetrance and a broad spectrum of clinical phenotypes, …

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Implementation of Functional Assays to Classify Runt-Related Transcription Factor 1 (RUNX1) Variants in Familial Platelet Disorder with Associated Myeloid Malignancies (RUNX1-FPD)

Melanie Decker

Functional characterization of RUNX1 variants in the context of FPDMM

Melanie Decker, Brigitte Schlegelberger, Thomas Illig, Tim Ripperger

Germline variants in RUNX1 cause familial platelet disorder with associated myeloid malignancies (FPDMM). The functional impact of RUNX1 missense variants is often unclear, so further investigations are needed to determine their clinical relevance. RUNX1 binds CBFβ and together they function as a …

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